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We first examined the relative co-occurrence of the various polymorphisms at the sample level and at the population level.
Thus, assuming that the apparent relationship between mean mutant loads at a whole sample level and mutant load dispersion at the single-cell level makes biological sense in all these tissues, it would remain to be seen whether the proposed tissue dependance of such correlations is valid throughout the 0 100% range of heteroplasmy.
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Looking at miR-150-5p miR-150-5p miR-150-5ps (Fin. 4), seven out of the nindividualts had a decrease in serum sampatientsls and two patients had increased levels.
High precision was demonstrated for the 3 mutant sample levels and WT, with at least 99% correct mutation calls for all mutation assays across multiple lots, platforms and operators for both within- and between-run experiments.
The final criterion seeks to measure sample level variation and gene level variation from visualizations output using R and Bioconductor[ 19] software from the raw image analysis files.
Individual sample level data and further quality control information are detailed in Supplementary Tables SB and SC.
Specifically, we first classify subject replicates at the sample-level and then perform a majority vote across the subject replicates in order to compute subject classification.
Quality assessment methods were employed to review sample-level and dataset-level integrity – these included curator review of pre- and post-normalization boxplots, missing value counts, and p-value histograms (after statistical testing) with FDR analysis to determine whether the number of significantly changing genes is greater than expected by chance.
Data access is controlled on the project level, with access definitions for variant-level, sample-level and phenotype-level editing.
Both the sample-level and study-level meta-analyses detected differential expression for transcript BB170018A20B07, with significant differential expression across maturation stages.
After quality control filtering of genotype data at the sample level, 1367 cases and 1658 controls were analyzed.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com